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Osteopontin: a potential biomarker of Gaucher disease

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Abstract

Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and the disorder that has the greatest immune system involvement. Pathologic lipid accumulation in macrophages accounts for a small amount of the additional tissue mass in the liver and spleen. The additional increase may be related to an inflammatory response because Gaucher cells secrete inflammatory mediators. Osteopontin (OPN) is a protein identified in cancer cells and in bone cells that is produced by several types of immune cells including T-cells and macrophages. We report here elevated OPN levels in the plasma of type 1 GD patients and its sensitive response to enzyme replacement therapy. The mean OPN value of GD patients receiving ERT was similar to the values of controls and patients with other lysosomal disorders. When comparing untreated and treated GD patients, the p value was <0.001. In GD, OPN appears to be more sensitive to ERT than chitotriosidase and can be used during the follow-up of patients who are chitotriosidase deficient. Additional extended studies are required to relate variations in the OPN levels to clinical findings and response to therapy in GD patients.

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Acknowledgments

We would like to thank Prof. Roberto Giugliani for his help with the patient samples and discussions; Patricia Koehler dos Santos and André Costa for their help with the analysis; Bianca Heineck for the CHIT1 molecular analysis; Pharm Maira Burin, Prof Ursula Matte, Prof. Guilherme Baldo, and Prof. Patricia Ashton-Prolla for their valuable comments on the paper.

Conflicts of interest

The authors have no conflict of interest to declare.

Details of funding

This study was supported by grants from FIPE-HCPA, the Brazilian Coordination of Improvement of Higher Education Personnel (CAPES), Programa de Apoio a Núcleos de Excelência (PRONEX) of the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and unrestricted research grants from Shire.

Authors’ contribution

F. Vairo and I. Schwartz designed and performed the research, analyzed the data, and wrote the paper. F. Sperb-Ludwig, M. Wilke, K. Michellin-Tirelli, C. Netto, and E.C. Neto performed the research and analyzed the data. M. Wilke performed the research and analyzed the data. K. Michellin-Tirelli performed the research and analyzed the data.

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Authors and Affiliations

  1. Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, 90035-903, Brazil

    Filippo Vairo, Matheus Wilke, Kristiane Michellin-Tirelli, Cristina Netto & Ida Schwartz

  2. Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Filippo Vairo, Fernanda Sperb-Ludwig & Ida Schwartz

  3. BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

    Filippo Vairo, Fernanda Sperb-Ludwig & Ida Schwartz

  4. CTN - Centro de Triagem Neonatal, Porto Alegre, Brazil

    Eurico Camargo Neto

  5. Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Ida Schwartz

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  1. Filippo Vairo
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  2. Fernanda Sperb-Ludwig
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  3. Matheus Wilke
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  4. Kristiane Michellin-Tirelli
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  6. Eurico Camargo Neto
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  7. Ida Schwartz
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Correspondence to Filippo Vairo.

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Vairo, F., Sperb-Ludwig, F., Wilke, M. et al. Osteopontin: a potential biomarker of Gaucher disease. Ann Hematol 94, 1119–1125 (2015). https://doi.org/10.1007/s00277-015-2354-7

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  • DOI: https://doi.org/10.1007/s00277-015-2354-7

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